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RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

Nucleotide repeat expansions in the C9orf72 gene are the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Unconventional translation (RAN translation) of C9orf72 repeats generates dipeptide repeat proteins that can cause neurodegeneration. We performed a ge...

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Autores principales: Yamada, Shizuka B., Gendron, Tania F., Niccoli, Teresa, Genuth, Naomi R., Grosely, Rosslyn, Shi, Yingxiao, Glaria, Idoia, Kramer, Nicholas J., Nakayama, Lisa, Fang, Shirleen, Dinger, Tai J. I., Thoeng, Annora, Rocha, Gabriel, Barna, Maria, Puglisi, Joseph D., Partridge, Linda, Ichida, Justin K., Isaacs, Adrian M., Petrucelli, Leonard, Gitler, Aaron D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6713615/
https://www.ncbi.nlm.nih.gov/pubmed/31358992
http://dx.doi.org/10.1038/s41593-019-0455-7
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author Yamada, Shizuka B.
Gendron, Tania F.
Niccoli, Teresa
Genuth, Naomi R.
Grosely, Rosslyn
Shi, Yingxiao
Glaria, Idoia
Kramer, Nicholas J.
Nakayama, Lisa
Fang, Shirleen
Dinger, Tai J. I.
Thoeng, Annora
Rocha, Gabriel
Barna, Maria
Puglisi, Joseph D.
Partridge, Linda
Ichida, Justin K.
Isaacs, Adrian M.
Petrucelli, Leonard
Gitler, Aaron D.
author_facet Yamada, Shizuka B.
Gendron, Tania F.
Niccoli, Teresa
Genuth, Naomi R.
Grosely, Rosslyn
Shi, Yingxiao
Glaria, Idoia
Kramer, Nicholas J.
Nakayama, Lisa
Fang, Shirleen
Dinger, Tai J. I.
Thoeng, Annora
Rocha, Gabriel
Barna, Maria
Puglisi, Joseph D.
Partridge, Linda
Ichida, Justin K.
Isaacs, Adrian M.
Petrucelli, Leonard
Gitler, Aaron D.
author_sort Yamada, Shizuka B.
collection PubMed
description Nucleotide repeat expansions in the C9orf72 gene are the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Unconventional translation (RAN translation) of C9orf72 repeats generates dipeptide repeat proteins that can cause neurodegeneration. We performed a genetic screen for regulators of RAN translation and identified small ribosomal protein subunit 25 (RPS25), presenting a potential therapeutic target for c9ALS/FTD and other neurodegenerative diseases caused by nucleotide repeat expansions.
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spelling pubmed-67136152020-01-29 RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats Yamada, Shizuka B. Gendron, Tania F. Niccoli, Teresa Genuth, Naomi R. Grosely, Rosslyn Shi, Yingxiao Glaria, Idoia Kramer, Nicholas J. Nakayama, Lisa Fang, Shirleen Dinger, Tai J. I. Thoeng, Annora Rocha, Gabriel Barna, Maria Puglisi, Joseph D. Partridge, Linda Ichida, Justin K. Isaacs, Adrian M. Petrucelli, Leonard Gitler, Aaron D. Nat Neurosci Article Nucleotide repeat expansions in the C9orf72 gene are the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Unconventional translation (RAN translation) of C9orf72 repeats generates dipeptide repeat proteins that can cause neurodegeneration. We performed a genetic screen for regulators of RAN translation and identified small ribosomal protein subunit 25 (RPS25), presenting a potential therapeutic target for c9ALS/FTD and other neurodegenerative diseases caused by nucleotide repeat expansions. 2019-07-29 2019-09 /pmc/articles/PMC6713615/ /pubmed/31358992 http://dx.doi.org/10.1038/s41593-019-0455-7 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms
spellingShingle Article
Yamada, Shizuka B.
Gendron, Tania F.
Niccoli, Teresa
Genuth, Naomi R.
Grosely, Rosslyn
Shi, Yingxiao
Glaria, Idoia
Kramer, Nicholas J.
Nakayama, Lisa
Fang, Shirleen
Dinger, Tai J. I.
Thoeng, Annora
Rocha, Gabriel
Barna, Maria
Puglisi, Joseph D.
Partridge, Linda
Ichida, Justin K.
Isaacs, Adrian M.
Petrucelli, Leonard
Gitler, Aaron D.
RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats
title RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats
title_full RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats
title_fullStr RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats
title_full_unstemmed RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats
title_short RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats
title_sort rps25 is required for efficient ran translation of c9orf72 and other neurodegenerative disease-associated nucleotide repeats
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6713615/
https://www.ncbi.nlm.nih.gov/pubmed/31358992
http://dx.doi.org/10.1038/s41593-019-0455-7
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